Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
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Sociedade Brasileira de Genética
1996
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oai:scielo:S0100-845519960004000232006-10-26Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic featuresFerreira,A.P.S.Mazzucatto,L.F.Ramos,E.S.Pina-Neto,J.M. Trisomy 13 mosaicism skin fibroblasts psychomotor retardation pigmentary dysplasia dysmorphic features A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaBrazilian Journal of Genetics v.19 n.4 19961996-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023en10.1590/S0100-84551996000400023 |
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Ferreira,A.P.S. Mazzucatto,L.F. Ramos,E.S. Pina-Neto,J.M. |
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Ferreira,A.P.S. Mazzucatto,L.F. Ramos,E.S. Pina-Neto,J.M. Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| author_facet |
Ferreira,A.P.S. Mazzucatto,L.F. Ramos,E.S. Pina-Neto,J.M. |
| author_sort |
Ferreira,A.P.S. |
| title |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| title_short |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| title_full |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| title_fullStr |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| title_full_unstemmed |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| title_sort |
trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features |
| description |
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts. |
| publisher |
Sociedade Brasileira de Genética |
| publishDate |
1996 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023 |
| work_keys_str_mv |
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| _version_ |
1756390794792534016 |